Phenotypes associated with this allele

• Allele Symbol: Sting1^em1Kaf
• Allele Name: endonuclease-mediated mutation 1, Katherine A Fitzgerald
• Allele ID: MGI:6306872
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sting1^em1Kaf/Sting1^em1Kaf	C57BL/6J-Sting1^em1Kaf	MGI:8355335
ht2	Sting1^em1Kaf/Sting1^+	C57BL/6J-Sting1^em1Kaf	MGI:8355338

Genotype
MGI:8355335

hm1

• Allelic Composition: Sting1^em1Kaf/Sting1^em1Kaf
• Genetic Background: C57BL/6J-Sting1^em1Kaf

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:274277 )

• no homozygotes are obtained at E14

Genotype
MGI:8355338

ht2

• Allelic Composition: Sting1^em1Kaf/Sting1⁺
• Genetic Background: C57BL/6J-Sting1^em1Kaf

mortality/aging

premature death ( J:274277 )

• mice have a shorter lifespan, starting to succumb by around 10 weeks of age, and succumbing later over a 4 month period compared to Sting1^em2Kaf heterozygotes

hematopoietic system

small thymus ( J:274277 )

• smaller thymus by 4-6 weeks of age

enlarged spleen ( J:274277 )

• enlarged spleen by 4-6 weeks of age

increased common myeloid progenitor cell number ( J:274277 )

• the percentage of myeloid progenitors (Lin-sca1-ckit+) is increased in the bone marrow

extramedullary hematopoiesis ( J:274277 )

increased neutrophil cell number ( J:274277 )

• mice exhibit an increase in both the percentage and number of Ly6G^hi neutrophils in the spleen than in wild-type mice at 5 weeks of age

decreased B cell number ( J:274277 )

• 16-, but not 6-week-old, mice exhibit B cell loss

• the B cells present in 16-week-old mice are activated

decreased immature B cell number ( J:274277 )

• the percentage of immature B220+AA4.1+ B cells is reduced in the bone marrow

decreased mature B cell number ( J:274277 )

• the percentage of mature B220+AA4.1- B cells is reduced in the bone marrow

decreased T cell number ( J:274277 )

• spleen shows a reduction in percentage and number of T cell receptor-Beta+ (TCRb+) T cells at 6 weeks of age

• remaining splenic T cells are activated

decreased thymocyte number ( J:274277 )

• total number of thymocytes, including the early CD4-CD8- double-negative thymocytes are reduced

increased myeloid cell number ( J:274277 )

• spleen exhibits higher percentage and total number of CD11b+ myeloid cells than in wild-type mice at 6 weeks of age

abnormal erythroid lineage cell morphology ( J:274277 )

• enlarged spleen shows increased percentage of Ter119+ erythroid lineage cells and increased percentage of immature erythrocytes (Ter119+ CD71+)

decreased erythrocyte cell number ( J:274277 )

• bone marrow exhibits reduced percentage of red blood cells

increased nucleated erythrocyte cell number ( J:274277 )

• enlarged spleen shows increased percentage of immature erythrocytes (Ter119+ CD71+)

immune system

small thymus ( J:274277 )

• smaller thymus by 4-6 weeks of age

enlarged spleen ( J:274277 )

• enlarged spleen by 4-6 weeks of age

increased neutrophil cell number ( J:274277 )

• mice exhibit an increase in both the percentage and number of Ly6G^hi neutrophils in the spleen than in wild-type mice at 5 weeks of age

decreased B cell number ( J:274277 )

• 16-, but not 6-week-old, mice exhibit B cell loss

• the B cells present in 16-week-old mice are activated

decreased immature B cell number ( J:274277 )

• the percentage of immature B220+AA4.1+ B cells is reduced in the bone marrow

decreased mature B cell number ( J:274277 )

• the percentage of mature B220+AA4.1- B cells is reduced in the bone marrow

decreased T cell number ( J:274277 )

• spleen shows a reduction in percentage and number of T cell receptor-Beta+ (TCRb+) T cells at 6 weeks of age

• remaining splenic T cells are activated

decreased thymocyte number ( J:274277 )

• total number of thymocytes, including the early CD4-CD8- double-negative thymocytes are reduced

increased cytokine level ( J:274277 )

• several chemokines and cytokines, such as IP10, MIG, and GCSF are elevated in sera of 16-week-old mice

increased chemokine level ( J:274277 )

• several chemokines and cytokines, such as IP10, MIG, and GCSF are elevated in sera of 16-week-old mice

liver inflammation ( J:274277 )

• moderate inflammation in the liver

lung inflammation ( J:274277 )

homeostasis/metabolism

increased cytokine level ( J:274277 )

• several chemokines and cytokines, such as IP10, MIG, and GCSF are elevated in sera of 16-week-old mice

increased chemokine level ( J:274277 )

• several chemokines and cytokines, such as IP10, MIG, and GCSF are elevated in sera of 16-week-old mice

endocrine/exocrine glands

small thymus ( J:274277 )

• smaller thymus by 4-6 weeks of age

decreased thymocyte number ( J:274277 )

• total number of thymocytes, including the early CD4-CD8- double-negative thymocytes are reduced

growth/size/body

decreased body size ( J:274277 )

decreased body weight ( J:274277 )

enlarged spleen ( J:274277 )

• enlarged spleen by 4-6 weeks of age

liver/biliary system

liver inflammation ( J:274277 )

• moderate inflammation in the liver

reproductive system

abnormal parturition ( J:274277 )

♀ • females are poor breeders and when pregnant, frequently have problems delivering pups

reduced female fertility ( J:274277 )

♀ • females are poor breeders

respiratory system

lung inflammation ( J:274277 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
STING-associated vasculopathy with onset in infancy		DOID:0111457	OMIM:615934	J:274277